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Aliases for CLINT1 Gene

Aliases for CLINT1 Gene

  • Clathrin Interactor 1 2 3 5
  • Epsin-Related Protein 3 4
  • Enthoprotin 3 4
  • EpsinR 3 4
  • CLINT 3 4
  • ENTH 3 4
  • EPN4 3 4
  • EPNR 3 4
  • Clathrin Interacting Protein Localized In The Trans-Golgi Region 3
  • Clathrin-Interacting Protein Localized In The Trans-Golgi Region 4
  • KIAA0171 4
  • Epsin 4 3
  • Epsin-4 4

External Ids for CLINT1 Gene

Previous GeneCards Identifiers for CLINT1 Gene

  • GC05M157146
  • GC05M152305
  • GC05M157212

Summaries for CLINT1 Gene

Entrez Gene Summary for CLINT1 Gene

  • This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]

GeneCards Summary for CLINT1 Gene

CLINT1 (Clathrin Interactor 1) is a Protein Coding gene. Diseases associated with CLINT1 include schizophrenia and xanthinuria. Among its related pathways are Vesicle-mediated transport and Clathrin derived vesicle budding. GO annotations related to this gene include lipid binding and clathrin binding. An important paralog of this gene is EPN3.

UniProtKB/Swiss-Prot for CLINT1 Gene

  • Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly.

Gene Wiki entry for CLINT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLINT1 Gene

Genomics for CLINT1 Gene

Regulatory Elements for CLINT1 Gene

Promoters for CLINT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLINT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLINT1 Gene

Chromosome:
5
Start:
157,785,743 bp from pter
End:
157,859,175 bp from pter
Size:
73,433 bases
Orientation:
Minus strand

Genomic View for CLINT1 Gene

Genes around CLINT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLINT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLINT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLINT1 Gene

Proteins for CLINT1 Gene

  • Protein details for CLINT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14677-EPN4_HUMAN
    Recommended name:
    Clathrin interactor 1
    Protein Accession:
    Q14677
    Secondary Accessions:
    • B7Z6F8
    • D3DQJ6
    • Q8NAF1
    • Q96E05

    Protein attributes for CLINT1 Gene

    Size:
    625 amino acids
    Molecular mass:
    68259 Da
    Quaternary structure:
    • Binds clathrin heavy chain, GGA2, AP-2 and AP1G1.
    SequenceCaution:
    • Sequence=BAA11488.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CLINT1 Gene

    Alternative splice isoforms for CLINT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLINT1 Gene

Proteomics data for CLINT1 Gene at MOPED

Post-translational modifications for CLINT1 Gene

  • Ubiquitination at Lys 6, Lys 158, Lys 183, Lys 200, Lys 207, Lys 218, Lys 297, Lys 314, Lys 467, and Lys 453
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CLINT1 Gene

Domains & Families for CLINT1 Gene

Protein Domains for CLINT1 Gene

Suggested Antigen Peptide Sequences for CLINT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14677

UniProtKB/Swiss-Prot:

EPN4_HUMAN :
  • Contains 1 ENTH (epsin N-terminal homology) domain.
  • Belongs to the epsin family.
Domain:
  • Contains 1 ENTH (epsin N-terminal homology) domain.
Family:
  • Belongs to the epsin family.
genes like me logo Genes that share domains with CLINT1: view

No data available for Gene Families for CLINT1 Gene

Function for CLINT1 Gene

Molecular function for CLINT1 Gene

UniProtKB/Swiss-Prot Function:
Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly.

Gene Ontology (GO) - Molecular Function for CLINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12429846
genes like me logo Genes that share ontologies with CLINT1: view
genes like me logo Genes that share phenotypes with CLINT1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CLINT1 Gene

Localization for CLINT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLINT1 Gene

Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Found throughout the cell, with the exception of the cell surface. Concentrated in the perinuclear region and associated with clathrin-coated vesicles close to the trans-Golgi network.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLINT1 Gene COMPARTMENTS Subcellular localization image for CLINT1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 5
endosome 2
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CLINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0030136 clathrin-coated vesicle IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with CLINT1: view

Pathways & Interactions for CLINT1 Gene

genes like me logo Genes that share pathways with CLINT1: view

Gene Ontology (GO) - Biological Process for CLINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with CLINT1: view

No data available for SIGNOR curated interactions for CLINT1 Gene

Drugs & Compounds for CLINT1 Gene

(2) Additional Compounds for CLINT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLINT1: view

Transcripts for CLINT1 Gene

Unigene Clusters for CLINT1 Gene

Clathrin interactor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLINT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e
SP1: - - - -
SP2: - - - -
SP3:
SP4: - - -
SP5: -
SP6:

Relevant External Links for CLINT1 Gene

GeneLoc Exon Structure for
CLINT1
ECgene alternative splicing isoforms for
CLINT1

Expression for CLINT1 Gene

mRNA expression in normal human tissues for CLINT1 Gene

Protein differential expression in normal tissues from HIPED for CLINT1 Gene

This gene is overexpressed in Nasal epithelium (9.6), Peripheral blood mononuclear cells (8.6), Platelet (7.4), and Skin (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CLINT1 Gene



SOURCE GeneReport for Unigene cluster for CLINT1 Gene Hs.644000

mRNA Expression by UniProt/SwissProt for CLINT1 Gene

Q14677-EPN4_HUMAN
Tissue specificity: Ubiquitously expressed at low to intermediate levels.
genes like me logo Genes that share expression patterns with CLINT1: view

Protein tissue co-expression partners for CLINT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CLINT1 Gene

Orthologs for CLINT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CLINT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLINT1 35
  • 95.8 (n)
  • 97.67 (a)
CLINT1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLINT1 35
  • 95.13 (n)
  • 97.51 (a)
CLINT1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clint1 35
  • 89.99 (n)
  • 94.7 (a)
Clint1 16
Clint1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLINT1 35
  • 99.67 (n)
  • 99.83 (a)
rat
(Rattus norvegicus)
Mammalia Clint1 35
  • 90.68 (n)
  • 96.94 (a)
oppossum
(Monodelphis domestica)
Mammalia CLINT1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLINT1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLINT1 35
  • 81.8 (n)
  • 84.09 (a)
CLINT1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLINT1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clint1 35
  • 71.14 (n)
  • 73.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1440 35
zebrafish
(Danio rerio)
Actinopterygii clint1a 35
  • 66.18 (n)
  • 67.53 (a)
wufa05f05 35
CLINT1 (2 of 2) 36
  • 56 (a)
OneToMany
clint1a 36
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004504 35
  • 48.41 (n)
  • 42.6 (a)
fruit fly
(Drosophila melanogaster)
Insecta lqfR 35
  • 50.13 (n)
  • 48.22 (a)
lqfR 36
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rsd-3 36
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.952 36
  • 61 (a)
OneToOne
Species with no ortholog for CLINT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLINT1 Gene

ENSEMBL:
Gene Tree for CLINT1 (if available)
TreeFam:
Gene Tree for CLINT1 (if available)

Paralogs for CLINT1 Gene

Paralogs for CLINT1 Gene

genes like me logo Genes that share paralogs with CLINT1: view

Variants for CLINT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CLINT1 Gene

Q14677-EPN4_HUMAN
Genetic variations in CLINT1 may contribute to susceptibility to schizophrenia (SCZD1) and psychotic disorders in some populations.

Sequence variations from dbSNP and Humsavar for CLINT1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs12283 -- 157,787,426(-) TTTCC(A/G)GTGAG utr-variant-3-prime
rs12284 -- 157,787,179(-) GATGA(C/T)CAGTT utr-variant-3-prime
rs166221 -- 157,791,313(-) tcgga(A/C/G/T)gctga intron-variant
rs187606 -- 157,847,581(+) ccaaa(C/T)ctcat intron-variant
rs168838 -- 157,837,417(-) TGTGT(A/G/T)TGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLINT1 Gene

Variant ID Type Subtype PubMed ID
dgv1868e1 CNV Complex 17122850
nsv509097 CNV Insertion 20534489
nsv521000 CNV Loss 19592680

Variation tolerance for CLINT1 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLINT1 Gene

HapMap Linkage Disequilibrium report
CLINT1

Disorders for CLINT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CLINT1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • schizophrenia 12
xanthinuria
  • xanthinuria, type i
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CLINT1

Genetic Association Database (GAD)
CLINT1
Human Genome Epidemiology (HuGE) Navigator
CLINT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLINT1
genes like me logo Genes that share disorders with CLINT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLINT1 Gene

Publications for CLINT1 Gene

  1. Enthoprotin: a novel clathrin-associated protein identified through subcellular proteomics. (PMID: 12213833) Wasiak S. … McPherson P.S. (J. Cell Biol. 2002) 2 3 4 23 67
  2. Failure to confirm an association between Epsin 4 and schizophrenia in a Japanese population. (PMID: 18696005) Richards M. … Kunugi H. (J Neural Transm 2008) 3 23
  3. The epsin 4 gene is associated with psychotic disorders in families of Latin American origin. (PMID: 18929466) Escamilla M. … Dassori A. (Schizophr. Res. 2008) 3 23
  4. A SNARE-adaptor interaction is a new mode of cargo recognition in clathrin-coated vesicles. (PMID: 18033301) Miller S.E. … Owen D.J. (Nature 2007) 3 23
  5. Family-based association study of Epsin 4 and Schizophrenia. (PMID: 16402136) Tang R.Q. … He L. (Mol. Psychiatry 2006) 3 23

Products for CLINT1 Gene

Sources for CLINT1 Gene

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